The
UMD-MEN1
mutations database
Pro to Pro mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Pro390Pro
c.1170G>A
8
390
Ju,Pem,NM,RP,FA,HD
Small rearrangement
Ts
G->A
3
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1926
04-AY01-S01-986
Female
LIKELY NEUTRAL
0
138
04-AY01-S01R-986
Female
Heterozygous
LIKELY NEUTRAL
0
139
04-PE18-P18I-986
Female
Heterozygous
LIKELY NEUTRAL
0
p.Pro545Pro
c.1635G>A
10
545
Sm3,CH
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1976
04-BE25-Y01-005
Female
UV
0